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Sarah E Donoghue

Showing results (1-10 of 5) with videos related to

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Journal of Paediatrics and Child Health|June 18, 2024
Intellectual disability: A potentially treatable conditionSarah E Donoghue, David J Amor
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 19, 2018
Smith-Lemli-Opitz syndrome: clinical and biochemical correlatesSarah E Donoghue, James J Pitt, Avihu Boneh, et al.
Journal of Paediatrics and Child Health|September 12, 2023
Developmental regression with early feeding difficulties and characteristic neuroimaging features of H-ABC in an infant from a TUBB4A genetic variantBillie Charles-Britton, Yen Lee Leong, Damian Clark, et al.
Clinical Chemistry and Laboratory Medicine|August 24, 2022
Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsisSarah E Donoghue, Oliver Heath, James Pitt, et al.
JIMD Reports|January 21, 2021
Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathySarah E Donoghue, Susan M White, Tiong Yang Tan, et al.
Pageof 1

Showing results (1-10 of 5) with videos related to

Sort By:
Pageof 1
Journal of Paediatrics and Child Health|June 18, 2024
Intellectual disability: A potentially treatable conditionSarah E Donoghue, David J Amor
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 19, 2018
Smith-Lemli-Opitz syndrome: clinical and biochemical correlatesSarah E Donoghue, James J Pitt, Avihu Boneh, et al.
Journal of Paediatrics and Child Health|September 12, 2023
Developmental regression with early feeding difficulties and characteristic neuroimaging features of H-ABC in an infant from a TUBB4A genetic variantBillie Charles-Britton, Yen Lee Leong, Damian Clark, et al.
Clinical Chemistry and Laboratory Medicine|August 24, 2022
Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsisSarah E Donoghue, Oliver Heath, James Pitt, et al.
JIMD Reports|January 21, 2021
Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathySarah E Donoghue, Susan M White, Tiong Yang Tan, et al.
Pageof 1